Canonical Allele Identifier: CA1858338

Gene: ERCC3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127286863G>A , CM000664.2:g.127286863G>A	GRCh38
NC_000002.11:g.128044439G>A , CM000664.1:g.128044439G>A	GRCh37
NC_000002.10:g.127760909G>A	NCBI36
NG_007454.1:g.12314C>T , LRG_462:g.12314C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000122.2:c.1182C>T MANE Select	NP_000113.1:p.Ser394=
ENST00000285398.7:c.1182C>T MANE Select	ENSP00000285398.2:p.Ser394=
NM_000122.1:c.1182C>T , LRG_462t1:c.1182C>T	NP_000113.1:p.Ser394=
NM_001303416.1:c.990C>T	NP_001290345.1:p.Ser330=
NM_001303416.2:c.990C>T	NP_001290345.1:p.Ser330=
NM_001303418.1:c.990C>T	NP_001290347.1:p.Ser330=
NM_001303418.2:c.990C>T	NP_001290347.1:p.Ser330=
ENST00000285398.6:c.1182C>T	ENSP00000285398.2:p.Ser394=
ENST00000426778.5:c.*1163C>T	ENSP00000415335.1:n.*1163C>T
ENST00000445889.5:c.*1225C>T	ENSP00000390888.1:n.*1225C>T
ENST00000494464.5:n.1253C>T
ENST00000644317.1:c.*671C>T	ENSP00000494012.1:n.*671C>T
ENST00000645233.1:c.*1394C>T	ENSP00000494116.1:n.*1394C>T
ENST00000645467.1:c.1182C>T	ENSP00000494889.1:p.Ser394=
ENST00000645736.1:c.1038C>T	ENSP00000494545.1:p.Ser346=
ENST00000646042.1:n.1917C>T
ENST00000646654.1:c.*649C>T	ENSP00000494526.1:n.*649C>T
ENST00000647169.1:c.1182C>T	ENSP00000495619.1:p.Ser394=
ENST00000647496.1:c.395+2474C>T
XM_011510794.1:c.1200C>T	XP_011509096.1:p.Ser400=
XM_011510794.2:c.1200C>T	XP_011509096.1:p.Ser400=
XM_011510795.1:c.744C>T	XP_011509097.1:p.Ser248=
XM_017003583.1:c.726C>T	XP_016859072.1:p.Ser242=